Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M)

Renal hypouricemia (RHUC) is a rare inherited disorder characterized by impaired urate reabsorption in the proximal tubule resulting in low urate serum levels and increased urate excretion. Some patients may present severe complications such as exercise-induced acute renal failure and nephrolithiasi...

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Detalles Bibliográficos
Autores principales: Perdomo-Ramirez, Ana, Cordoba-Lanus, Elizabeth, Trujillo-Frias, Carmen Jane, Gonzalez-Navasa, Carolina, Ramos-Trujillo, Elena, Luis-Yanes, Maria Isabel, Garcia-Nieto, Victor, Claverie-Martin, Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179447/
https://www.ncbi.nlm.nih.gov/pubmed/37176161
http://dx.doi.org/10.3390/ijms24098455

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179447/
https://www.ncbi.nlm.nih.gov/pubmed/37176161
http://dx.doi.org/10.3390/ijms24098455

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